17q23.1-q23.2CNV Type: Deletion
Largest CNV size: 2142603 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
De novo deletions within this region were found in two cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2142603
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
2198027
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
2229172
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001108
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
60095339
62237942
2142604
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005271
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
60043448
62148729
2105282
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
levy_11_ASD_discovery_controls-12117.s1
NA
F
Control
NA
NA
60003536
62201562
2198027
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
60033163
62262335
2229173
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001108
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SCARNA20,RPL12P38,RPSAP66,RNU6-623P,RN7SL606P,KRT18P61,HMGN1P28,RN7SL448P,RPL23AP74,C17orf82,NACA2,RN7SL800P,POLRMTP1,APPBP2,LINC01999,PPM1D,TBX2-AS1,TBX2,CA4,USP32,C17orf64,TBX4,BRIP1,MED13,BCAS3,INTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005271
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
WFDC21P,SCARNA20,RPL12P38,RPSAP66,RNU6-623P,RN7SL606P,KRT18P61,HMGN1P28,RN7SL448P,RPL23AP74,C17orf82,NACA2,RN7SL800P,POLRMTP1,HEATR6,APPBP2,LINC01999,PPM1D,TBX2-AS1,TBX2,CA4,USP32,C17orf64,TBX4,BRIP1,MED13,BCAS3,INTS2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
levy_11_ASD_discovery_controls-12117.s1
aCGH (Agilent 244K)
De novo
Simplex
NA
MIR4737,WFDC21P,SCARNA20,RPL12P38,RPSAP66,RNU6-623P,RN7SL606P,KRT18P61,HMGN1P28,RN7SL448P,RPL23AP74,C17orf82,NACA2,RN7SL800P,POLRMTP1,TBC1D3P1-DHX40P1,TBC1D3P1,HEATR6,APPBP2,LINC01999,PPM1D,TBX2-AS1,TBX2,CA4,USP32,C17orf64,TBX4,BRIP1,MED13,BCAS3,INTS2
sanders_11_ASD_discovery_controls-12117.s1
qPCR
De Novo
Simplex (quad)
NA
MIR4737,WFDC21P,SCARNA20,RPL12P38,RPSAP66,RNU6-623P,RN7SL606P,KRT18P61,HMGN1P28,RN7SL448P,RPL23AP74,C17orf82,NACA2,RN7SL800P,POLRMTP1,HEATR6,APPBP2,LINC01999,PPM1D,TBX2-AS1,TBX2,CA4,USP32,C17orf64,TBX4,BRIP1,MED13,BCAS3,INTS2
No Animal Model Data Available